Evidence map›Paper›PMID 30642066›Full record

ReviewBrain sciences2019

Closing the Gender Gap in Fragile X Syndrome: Review on Females with FXS and Preliminary Research Findings.

Kristi L Bartholomay, Cindy H Lee, Jennifer L Bruno, Amy A Lightbody, Allan L Reiss

3 registry-linked trialsOpen access · goldAbstract readReview
In one paragraph

Review in Brain sciences, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 3 registered trials, which are not on this map. Cited by 70 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
70citing papers in PubMed, 4 pooled it
7.7field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT06480968 phase1completednot on this mapstarted 2023, after this paper: background citation

Safety and Tolerability of CTH120, First-in-human Phase I Study Encompassing Three Parts: Single and Multiple Ascending Doses and Potential Food Interaction

TypeinterventionalSponsorConnecta Therapeutics, S.L.Ran2023 to 2024Enrolled76ConditionsFragile X SyndromeArmsCTH120, Placebo
NCT06957054 completednot on this mapstarted 2024, after this paper: background citation

Assessment of Neural Biomarkers in Adult Subjects With Fragile X Syndrome and Typically Developing Subjects

TypeobservationalSponsorConnecta Therapeutics, S.L.Ran2024 to 2025Enrolled20ConditionsFragile X Syndrome (FXS), Neurotypical AdultsArmsAny
NCT07654114 phase2recruitingnot on this mapstarted 2026, after this paper: background citation

Evaluation of the Safety, Tolerability, and Effectiveness of CTH120 in Adult Males With Fragile X Syndrome

TypeinterventionalSponsorConnecta Therapeutics, S.L.Ran2026 to 2027Enrolled30ConditionsFragile X Syndrome (FXS), Fragile X SyndromeArmsCTH120, CTH120 placebo hard capsules
3 · Its place in the literature

Who cites it

70 citing papers in PubMed, 4 syntheses or guidelines pooled it, 106 citations in OpenAlex.

  1. The Impact of Fragile X Syndrome on Caregivers: A Systematic Review.Journal of intellectual disability research : JIDR · 2026
    Pooled it
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Lasting effects of early-life oxytocin treatment on LTP and episodic memory in a mouse model of Fragile X syndrome.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2026
    Article
  6. Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Alpha oscillations are dysrhythmic in Fragile X syndrome.bioRxiv : the preprint server for biology · 2026
    Article
  12. Altered Auditory Maturation in Fragile X Syndrome and Its Involvement in Audiogenic Seizure Susceptibility.Autism research : official journal of the International Society for Autism Research · 2026
    Article
  13. Article
  14. Article
  15. Neurobehavioral profile of individuals with pathogenic variants in CHD3.European journal of human genetics : EJHG · 2025
    Article
  16. Article
  17. Article
  18. Review
  19. Article
  20. Article

10 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors at 1 institution in 1 country.

Kristi L BartholomayDepartment of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA 94305, USA. kbarthol@stanford.edu.ORCID 0000-0002-6505-403X
Cindy H LeeDepartment of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA 94305, USA. leecindy@stanford.edu.ORCID 0000-0002-8296-9362
Jennifer L BrunoDepartment of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA 94305, USA. jenbruno@stanford.edu.ORCID 0000-0001-7705-2456
Amy A LightbodyDepartment of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA 94305, USA. aal@stanford.edu.
Allan L ReissDepartment of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA 94305, USA. areiss1@stanford.edu.
Stanford University · US

Funding

NEUROPSYCHIATRIC-MOLECULAR ASSOCIATIONS IN FRAGILE X SYNR01MH050047 · NIMH · STANFORD UNIVERSITY · PI REISS, ALLAN L · 1993 to 2022
$12.5M
National Institutes of Health 2R01MH050047NIMH NIH HHS R01 MH050047
6 · The paper itself

Abstract

Fragile X syndrome (FXS) is a genetic condition known to increase the risk of cognitive impairment and socio-emotional challenges in affected males and females. To date, the vast majority of research on FXS has predominantly targeted males, who usually exhibit greater cognitive impairment compared to females. Due to their typically milder phenotype, females may have more potential to attain a higher level of independence and quality of life than their male counterparts. However, the constellation of cognitive, behavioral, and, particularly, socio-emotional challenges present in many females with FXS often preclude them from achieving their full potential. It is, therefore, critical that more research specifically focuses on females with FXS to elucidate the role of genetic, environmental, and socio-emotional factors on outcome in this often-overlooked population.

Indexed as

anxietyavoidancebehaviorbraincognitionfemalesFMR1fragile X syndromeX chromosome

Identifiers

PMID30642066
PMCPMC6356553
OpenAlexW2908904948

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.